SNP Links for Protein (Select 4759264) - SNP

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Links from Protein

Items: 1 to 20 of 187

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Select item 14882954051.

rs1488295405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:49144998 (GRCh38)
15:49437195 (GRCh37)
Canonical SPDI:: NC_000015.10:49144997:A:C
Gene:: COPS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.49144998A>C, NC_000015.9:g.49437195A>C, NM_004236.4:c.135T>G, NM_004236.3:c.135T>G, NM_001143887.2:c.135T>G, NM_001143887.1:c.135T>G, NP_004227.1:p.Asp45Glu, NP_001137359.1:p.Asp45Glu

Select item 14800900142.

rs1480090014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:49137379 (GRCh38)
15:49429576 (GRCh37)
Canonical SPDI:: NC_000015.10:49137378:T:C
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.49137379T>C, NC_000015.9:g.49429576T>C, NM_004236.4:c.431A>G, NM_004236.3:c.431A>G, NM_001143887.2:c.452A>G, NM_001143887.1:c.452A>G, NP_004227.1:p.Asn144Ser, NP_001137359.1:p.Asn151Ser

Select item 14792413763.

rs1479241376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:49137168 (GRCh38)
15:49429365 (GRCh37)
Canonical SPDI:: NC_000015.10:49137167:C:T
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.49137168C>T, NC_000015.9:g.49429365C>T, NM_004236.4:c.522G>A, NM_004236.3:c.522G>A, NM_001143887.2:c.543G>A, NM_001143887.1:c.543G>A

Select item 14786678684.

rs1478667868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:49129504 (GRCh38)
15:49421701 (GRCh37)
Canonical SPDI:: NC_000015.10:49129503:T:C
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.49129504T>C, NC_000015.9:g.49421701T>C, NM_004236.4:c.1101A>G, NM_004236.3:c.1101A>G, NM_001143887.2:c.1122A>G, NM_001143887.1:c.1122A>G

Select item 14707228195.

rs1470722819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:49137357 (GRCh38)
15:49429554 (GRCh37)
Canonical SPDI:: NC_000015.10:49137356:T:G
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.49137357T>G, NC_000015.9:g.49429554T>G, NM_004236.4:c.453A>C, NM_004236.3:c.453A>C, NM_001143887.2:c.474A>C, NM_001143887.1:c.474A>C

Select item 14542259596.

rs1454225959 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:49134422 (GRCh38)
15:49426619 (GRCh37)
Canonical SPDI:: NC_000015.10:49134421:G:A
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.49134422G>A, NC_000015.9:g.49426619G>A, NM_004236.4:c.633C>T, NM_004236.3:c.633C>T, NM_001143887.2:c.654C>T, NM_001143887.1:c.654C>T

Select item 14526806847.

rs1452680684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:49128752 (GRCh38)
15:49420949 (GRCh37)
Canonical SPDI:: NC_000015.10:49128751:G:A
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.49128752G>A, NC_000015.9:g.49420949G>A, NM_004236.4:c.1137C>T, NM_004236.3:c.1137C>T, NM_001143887.2:c.1158C>T, NM_001143887.1:c.1158C>T

Select item 14447474718.

rs1444747471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:49137432 (GRCh38)
15:49429629 (GRCh37)
Canonical SPDI:: NC_000015.10:49137431:A:G
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.49137432A>G, NC_000015.9:g.49429629A>G, NM_004236.4:c.378T>C, NM_004236.3:c.378T>C, NM_001143887.2:c.399T>C, NM_001143887.1:c.399T>C

Select item 14425430549.

rs1442543054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:49144978 (GRCh38)
15:49437175 (GRCh37)
Canonical SPDI:: NC_000015.10:49144977:C:T
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.49144978C>T, NC_000015.9:g.49437175C>T, NM_004236.4:c.155G>A, NM_004236.3:c.155G>A, NM_001143887.2:c.155G>A, NM_001143887.1:c.155G>A, NP_004227.1:p.Ser52Asn, NP_001137359.1:p.Ser52Asn

Select item 143976465010.

rs1439764650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:49130779 (GRCh38)
15:49422976 (GRCh37)
Canonical SPDI:: NC_000015.10:49130778:T:A
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.49130779T>A, NC_000015.9:g.49422976T>A, NM_004236.4:c.985A>T, NM_004236.3:c.985A>T, NM_001143887.2:c.1006A>T, NM_001143887.1:c.1006A>T, NP_004227.1:p.Ile329Phe, NP_001137359.1:p.Ile336Phe

Select item 143344600011.

rs1433446000 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:49139628 (GRCh38)
15:49431825 (GRCh37)
Canonical SPDI:: NC_000015.10:49139627:C:G
Gene:: COPS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.49139628C>G, NC_000015.9:g.49431825C>G, NM_004236.4:c.272G>C, NM_004236.3:c.272G>C, NM_001143887.2:c.272G>C, NM_001143887.1:c.272G>C, NP_004227.1:p.Arg91Thr, NP_001137359.1:p.Arg91Thr

Select item 143153100012.

rs1431531000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:49128746 (GRCh38)
15:49420943 (GRCh37)
Canonical SPDI:: NC_000015.10:49128745:A:C
Gene:: COPS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.49128746A>C, NC_000015.9:g.49420943A>C, NM_004236.4:c.1143T>G, NM_004236.3:c.1143T>G, NM_001143887.2:c.1164T>G, NM_001143887.1:c.1164T>G, NP_004227.1:p.Asp381Glu, NP_001137359.1:p.Asp388Glu

Select item 142910637713.

rs1429106377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:49137163 (GRCh38)
15:49429360 (GRCh37)
Canonical SPDI:: NC_000015.10:49137162:T:C
Gene:: COPS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.49137163T>C, NC_000015.9:g.49429360T>C, NM_004236.4:c.527A>G, NM_004236.3:c.527A>G, NM_001143887.2:c.548A>G, NM_001143887.1:c.548A>G, NP_004227.1:p.His176Arg, NP_001137359.1:p.His183Arg

Select item 142899523714.

rs1428995237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:49128707 (GRCh38)
15:49420904 (GRCh37)
Canonical SPDI:: NC_000015.10:49128706:C:T
Gene:: COPS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.49128707C>T, NC_000015.9:g.49420904C>T, NM_004236.4:c.1182G>A, NM_004236.3:c.1182G>A, NM_001143887.2:c.1203G>A, NM_001143887.1:c.1203G>A

Select item 142889846915.

rs1428898469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:49139598 (GRCh38)
15:49431795 (GRCh37)
Canonical SPDI:: NC_000015.10:49139597:C:G
Gene:: COPS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.49139598C>G, NC_000015.9:g.49431795C>G, NM_004236.4:c.302G>C, NM_004236.3:c.302G>C, NM_001143887.2:c.302G>C, NM_001143887.1:c.302G>C, NP_004227.1:p.Ser101Thr, NP_001137359.1:p.Ser101Thr

Select item 142413686616.

rs1424136866 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:49127950 (GRCh38)
15:49420147 (GRCh37)
Canonical SPDI:: NC_000015.10:49127949:T:C
Gene:: COPS2 (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000015.10:g.49127950T>C, NC_000015.9:g.49420147T>C, NM_004236.4:c.1332A>G, NM_004236.3:c.1332A>G, NM_001143887.2:c.1353A>G, NM_001143887.1:c.1353A>G

Select item 142003067417.

rs1420030674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:49129527 (GRCh38)
15:49421724 (GRCh37)
Canonical SPDI:: NC_000015.10:49129526:T:C
Gene:: COPS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.49129527T>C, NC_000015.9:g.49421724T>C, NM_004236.4:c.1078A>G, NM_004236.3:c.1078A>G, NM_001143887.2:c.1099A>G, NM_001143887.1:c.1099A>G, NP_004227.1:p.Ile360Val, NP_001137359.1:p.Ile367Val

Select item 141848320418.

rs1418483204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:49139535 (GRCh38)
15:49431732 (GRCh37)
Canonical SPDI:: NC_000015.10:49139534:G:A
Gene:: COPS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.49139535G>A, NC_000015.9:g.49431732G>A, NM_004236.4:c.365C>T, NM_004236.3:c.365C>T, NM_001143887.2:c.365C>T, NM_001143887.1:c.365C>T, NP_004227.1:p.Ser122Phe, NP_001137359.1:p.Ser122Phe

Select item 141324739219.

rs1413247392 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:49129531 (GRCh38)
15:49421728 (GRCh37)
Canonical SPDI:: NC_000015.10:49129530:C:T
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.49129531C>T, NC_000015.9:g.49421728C>T, NM_004236.4:c.1074G>A, NM_004236.3:c.1074G>A, NM_001143887.2:c.1095G>A, NM_001143887.1:c.1095G>A

Select item 141254776320.

rs1412547763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:49134062 (GRCh38)
15:49426259 (GRCh37)
Canonical SPDI:: NC_000015.10:49134061:T:C
Gene:: COPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.49134062T>C, NC_000015.9:g.49426259T>C, NM_004236.4:c.762A>G, NM_004236.3:c.762A>G, NM_001143887.2:c.783A>G, NM_001143887.1:c.783A>G

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